Associated Papers
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.
Paternoster L et al.
American Journal of Medical Genetics. Part A, 2020
Structural Characterization of Carbonic Anhydrase VIII and Effects of Missense Single Nucleotide Variations to Protein Structure and Function.
Sanyanga TA et al.
International Journal of Molecular Sciences, 2020
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.
Richmond CM et al.
Clinical Genetics, 2020
Clonal Evolutionary Analysis during HER2 Blockade in HER2-Positive Inflammatory Breast Cancer: A Phase II Open-Label Clinical Trial of Afatinib +/- Vinorelbine.
Goh G et al.
Plos Medicine, 2016
27923043 (PubMed )
Supplement: pmed.1002136.s018.xlsx › S6_Table
The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.
Lim CH et al.
Oncotarget, 2016
27175599 (PubMed )
Supplement: oncotarget-07-39758-s004.xlsx › TableS3
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H et al.
Nature, 2011
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